Associated Papers
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings.
Karimzadeh P et al.
Clinical Case Reports, 2022
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
Zadjali F et al.
Human Mutation, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z et al.
American Journal of Human Genetics, 2018
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
Antonellis A et al.
Human Mutation, 2018
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